The Risk of Delayed Diagnosis in COVID-19 Era: Celiac Crisis

n/

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances

The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views

Focal Epilepsy Associated with Glioneuronal Tumors

Glioneuronal tumors are an increasingly recognized cause of partial seizures that occur primarily in children and young adults. Focal epilepsy associated with glioneuronal tumors is often resistant to pharmacological treatment. The cellular mechanisms underlying the epileptogenicity of glioneuronal tumors remain largely unknown. The involved mechanisms are certain to be multifactorial and depend on specific tumor histology, integrity of the blood-brain barrier, characteristics of the peritumoral environment, circuit abnormalities, or cellular and molecular defects. Glioneuronal tumors presenting with epilepsy were observed to have relatively benign biological behavior. The completeness of the tumor resection is of paramount importance in avoiding tumor progression and malignant transformation, which are rare in cases of epileptogenic glioneuronal tumors. An evolving understanding of the various mechanisms of tumor-related epileptogenicity may also lead to a more defined surgical objective and effective therapeutic strategies, including antiepileptogenic treatments, to prevent epilepsy in at-risk patients

Inflammation and oxidative stress in diabetic nephropathy: new insights on its inhibition as new therapeutic targets

Diabetes and insulin resistance can greatly increase microvascular complications of diabetes including diabetic nephropathy (DN). Hyperglycemic control in diabetes is key to preventing the development and progression of DN. However, it is clinically very difficult to achieve normal glucose control in individual diabetic patients. Many factors are known to contribute to the development of DN. These include diet, age, lifestyle, or obesity. Further, inflammatory-or oxidative-stress-induced basis for DN has been gaining interest. Although anti-inflammatory or antioxidant drugs can show benefits in rodent models of DN, negative evidence from large clinical studies indicates that more effective anti-inflammatory and antioxidant drugs need to be studied to clear this question. In addition, our recent report showed that potential endogenous protective factors could decrease inflammation and oxidative stress, showing great promise for the treatment of DN

Early Insulin Resistance, Type 2 Diabetes, and Treatment Options in Childhood

Background: Type 2 diabetes (T2D) represents just the tip of the iceberg of the complex metabolic alterations associated with obesity and other clinical conditions associated to impaired adipose tissue storage. Summary: Available data have suggested the presence of a continuous spectrum of metabolic alterations developed in the progression from insulin resistance (IR) to T2D, most of which are likely preventable through the early characterization of all the multiple risk factors involved. Therefore, the complete characterization of the natural history of the disease and the major modifiable factors represents a milestone in the daily care of young subject at risk for the development of impaired glucose metabolism early in life. This review will focus on the main components defining the risk of IR and T2D in childhood with a specific focus on the main aspects of treatment options available in children and adolescents. Key messages: Impaired adipose tissue storage documented in obesity results in a continuous spectrum of metabolic alterations ranging from IR to T2DM. These metabolic alterations are mostly likely preventable through the early characterization of all the multiple risk factors involved. The complete characterization of the disease and of the major modifiable factors represent a milestone in the daily care of young subject at risk for the development of impaired glucose metabolism early in life

Mesh Fixation Methods in Groin Hernia Surgery

No unanimous consent has been reached by surgeons in terms of a method for mesh fixation in laparoscopic and open surgery for inguinal hernia repair. Many different methods of fixation are available, and the choice of which one to use is still based on surgeons’ preferences. At present, tissue glues, sutures, and laparoscopic tacks are the most common fixating methods. In open technique, sutures have been the method of choice for their reduced costs and surgeons’ habits. Nevertheless, tissue glues have been demonstrated to be effective and safe. Similarly, tacks can be considered the most common means of fixation in laparoscopic hernia repair, but they are connected to a higher risk of complication and morbidity. In this chapter, we present these types of mesh fixation, their characteristics and potential risks, and advantages of their use

Kawasaki disease in a girl with turner syndrome: A remarkable association

We describe a girl with Turner syndrome, a genetic disorder of the X chromosome in a phenotypic female at increased risk of autoimmune and immunological diseases, who developed Kawasaki disease at the age of four years. Given the possible relationship between these two disorders, we recommend suspecting Kawasaki disease in patients with Turner syndrome who present with persistent fever of unknown origin and who are not responsive to antibiotic therapy. Attention should be given to this phenomenon, as patients with Turner syndrome are themselves at higher risk of cardiovascular defects. Further studies are needed to better clarify this issue

Leukocyte adhesion deficiency disorder in an infant.

Leukocyte adhesion defect (LAD) is an inherited disorder of phagocytic function. The three different alpha-chains of the leukocyte integrin family (CD 11a, 11b, 11c) are all dependent on the common beta chain (CD18) for proper insertion into the cell membrane. Deficiency of CD 18 thus causes an inability to express any of these proteins and results in the syndrome of LAD type 1. Clinical features include delayed separation of the umbilical cord, persistent leukocytosis and recurrent infection. A case of severe LAD occurred in a 1 month-old infant. The immunological pattern of the baby showed pathological values of CD11b and CD18 (1.3% and 0.2% respectively) when compared with normal values (50-70%) and lack of random (1.0 nm vs normal of 10±5) and casein-induced (22.0 nm vs normal of 60-120nm) chemotaxis. The baby is now waiting for bone marrow transplantation. Although LAD is a rare form of congenital immune deficiency this disease should be considered when delayed wound healing and recurrent bacterial skin infections are present in a newborn